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Maternal PKU Study Update

Maternal PKU Study Update. A follow up study funded by a Milton Grant and the National PKU Alliance. Purpose of the Study:. To see how mothers with PKU and their offspring are doing and to understand the long term outcome of pregnancies in women who have PKU

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Maternal PKU Study Update

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  1. Maternal PKU Study Update A follow up study funded by a Milton Grant and the National PKU Alliance

  2. Purpose of the Study: • To see how mothers with PKU and their offspring are doing and to understand the long term outcome of pregnancies in women who have PKU • The Australian sample only looked at 9 mothers and 30 offspring (age 18 months-10 years) and only did a developmental assessment of 9 offspring belonging to 5 mothers • For mothers with PKU who are looking to have children, knowing how MPKU offspring are doing not just right after birth but as much as 20 years later is very helpful

  3. The Sample (so far): • 24 mothers ranging from 23-48 (average age is 40) • 48 offspring ranging from 2 months-26 years 0-2- 10 subjects 3-6- 15 subjects 7-11- 8 subjects 12-18- 12 subjects 18+- 3 subjects

  4. How are we measuring how the subjects are doing? • IQ (mothers and offspring) • Executive functioning (mothers and offspring) • Prevalence of Anxiety/Depression/ADHD (mothers and offspring) • Physical exam (mothers and offspring) • Home Scale--measure of home environment (offspring) • Nutrition analysis (mothers) • Labs—especially Phe level (mothers) • Photos to look at dysmorphology (mothers, offspring, and fathers if possible)

  5. What have we found? • The mean IQ for mothers is 96 (with a standard deviation of 16) • 5 of 24 have below average IQ (<85), and 4 of those 5 are currently off diet • The mean IQ for offspring is 98 (with a standard deviation of 17 • 6 of 48 offspring have below average IQ(<85), and they are a mix of early (on diet <6 weeks into pregnancy) and late treated (>6 weeks) (we don’t have an exact number because we are still gathering medical records)

  6. What have we found? • Correlation between the mothers and their offspring’s IQ is 0.7 • Mean Phe level is 1052 umol/L (17 mg/dL) • Less than half of the mothers are currently on diet (10 out of 24)

  7. A look at treatment during pregnancy and offspring IQ scores:

  8. A look at mothers current adherence to diet and offspring IQ scores:

  9. Anxiety and Depression: • Anxiety in Mothers: • 6 mothers with mild anxiety, 1 with moderate, and 1 with severe • The ones with moderate and severe were both currently off diet, the ones with mild anxiety were split 50/50 • Depression in Mothers: • 3 with mild depression, 2 with moderate depression • Of the two with moderate depression, one was on diet and the other was not

  10. Anxiety, Depression, and ADHD • Anxiety in Offspring: • 3 were identified with anxiety based on the neuropsychological questionnaires filled out by the parents • 3 more were reported to suffer from anxiety on their health history forms filled out by their parents • 2 of the 3 who had high anxiety scores on their neuropsych questionnaires were not reported by their parents as having anxiety • Depression in Offspring: • 1was identified with depression • ADHD in Offspring: • 2 had scores indicating attention problems and none had scores indicating hyperactivity • 6 more were reported to have been diagnosed and were currently being treated for ADHD

  11. What’s next? • We are on the process of planning a trip to Toronto to work with Dr. William Hanley and a number of PKU mothers and offspring at his clinic there • We are also planning to finish up with local subjects in the next month or so and then begin analysis We are excited to have much more to share next year!!

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